M1I (p.Met1Ile) variant of PHF6 (PHD finger protein 6)
M1I (p.Met1Ile) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs398124428
- ClinGen CA223837
- ClinVar RCV000082301
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.85
- SIFT 0.02
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available